Case Presentation

1. Case Presentation Kaitlyn Brown Training 2010

2. Presentation to Family Physician • Genevieve is a twenty-three year old African American student at University of Toronto. • She visits her family physician because she has been experiencing the following symptoms for the past 3-4 days: • Chest pain • Headache • Mood swings • Polymyalgia and pain in joints (wrists and knees) • Extreme fatigue • General malaise

3. Medical History • Genevieve has visited walk-in clinics a couple times in the past year with complaints of headaches, myalgia, joint pain, and fatigue. • No infections or signs of disease were found in routine physical • Doctors recommended maintaining a healthy lifestyle and taking NSAIDs for pain. • Following advice of one physician, Genevieve began recording information about symptom onset, duration, and nature to show her family doctor. • She observed the following: • Photosensitivity resulting in frequent sunburns on face and shoulders • Symptoms experienced every 1-2 months for about 1-2 weeks. In between, she feels slightly tired and has some aches, but is otherwise normal. • This is the first time she has experienced chest pain.

4. Medical History (Continued) • Otherwise, has no history of significant illness or injuryand has had no recent infections. • Maintains a healthy weight, follows guidelines for healthy eating, and enjoys playing tennis in spare time. • Non-smoker and moderate drinker • Not taking any medications (with exception of occasional OTC painkillers) or oral contraceptives

5. Personal History • Completing her Masters degree in linguistics at University of Toronto and is living with two friends in an apartment • She has been in a monogamous relationship for one year. • Has had significant sources of stress throughout university years: abusive ex-boyfriend and death of close friend, in addition to typical student anxieties • Grew up in suburbia and is the eldest of four healthy children • Family medical history is unremarkable – all parents and grandparents are still living and in good health

6. Physical Examination: Vital Signs • Temperature: 100.1° F • Heart rate: 82 beats per minute • Blood Pressure: 112/70 mmHg • Rate of Respiration: 20 breaths/minute

7. Physical Examination • Two painless oral ulcers found on wall of left cheek • Chest pain became worse when breathing deeply or lying down; improved when leaning forward • On auscultation of chest, physician heard a friction rub. • Joint stiffness and slight swelling noted in wrists and knees - range of motion is slightly decreased • Swollen ankles and feet

8. The Test Battery • The physician decides to run a battery of tests, with emphasis on diagnosing a cardiac issue. • Electrocardiogram • Echocardiograph • Complete blood count • Autoantibody testing • Urine analysis • Chemistry profile • Thyroid panel • Erythrocyte sedimentation rate

9. Results from Electrocardiogram and Echocardiograph Normal Electrocardiograph shown above. Genevieve’s showed: ST segment elevations (upwardly concave) Depression of PQ segment Echocardiograph

10. Cardiac Diagnosis: Pericarditis • Based on interpretation of electrocardiogram and echocardiograph, the cardiologist determines pericarditisin the patient. There is some pericardial effusion, but it is minimal. • What should be done, now that the cardiac problem is diagnosed? • Does pericarditis adequately explain all symptoms?

11. Results from CBC, ESR Erythrocyte Sedimentation Rate: Normal = up to 20 mm/hr Genevieve’s = 210 mm/hr

12. Chemistry Profile, Urinalysis, Thyroid Panel, and Autoantibody Tests • Results from chemistry profile, urinalysis, and thyroid panel were all within normal range. Autoantibody Test Results

13. Diagnosis? • These results implicate that Genevieve’s disease falls under a certain group of disorders. • What group is this? • Based on her collective symptoms and test results as well as epidemiological data, a certain disease is highly suspect.

14. On her next appointment... • This rash is found below Genevieve’s neck. • A definitive diagnosis can be made.

15. A little bit about Lupus... • Incurable auto-immune disease that primarily affects women. Non-Caucasian women are at significantly higher risk. • There are three types: Systemic Lupus Erythematosus, Discoid Lupus, and Drug Induced Lupus. • Cause is unknown. Studies have loosely implicated genetics, hormones, stress, and environment to disease development. • Can manifest with an extremely wide variety of symptoms in almost every system of the body (kidneys, heart, lungs, skin, nervous system, blood, joints, and muscles can all be affected). • Not everyone experiences all symptoms; every case is very different. • Michael Jackson reportedly had it!

16. Treatment • NSAIDs and/or analgesics • Anti-malarials (Hydroxychloroquine) • Immunosuppressives (chemotherapy or anti-rejection agents) • Glucocorticoids(usually Prednisone) • Avoid direct sunlight • Eat a wholesome diet – preliminary studies have shown that becoming vegetarian (with proper protein and nutrient intake) can significantly help with symptoms

17. Prognosis • Systemic Lupus Erythematosus used to be fatal within five years • Now, the treatment for it is very effective and most people survive many years following diagnosis • In later life, other diseases may be worsened or develop in association to the lupus.